Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with cornelia de lange syndrome

Teresa-Rodrigo, M.; Ramos, F.J.; Gil-Rodríguez, M.C.; Braunholz, D.; Baquero, C.; Kaiser, F.J.; Casale, C.H.; Hernández-Marcos, M.; Puisac, B.; de Karam, J.C.; Dalski, A.; Gillessen-Kaesbach, G.; Santos-Simarro, F.; Pié, J.; Eckhold, J.; Lapunzina, P.; Ciero, M.; Wierzba, J.

doi:10.3390/ijms150610350

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Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with cornelia de lange syndrome - Teresa-Rodrigo, M. et al - ART-2014-87019

Universidad de Zaragoza Repository